Canonical Allele Identifier: CA2194562000

Gene: POLG

Linked Data

• dbSNP Id: rs2055557282

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328838_89328839del , CM000677.2:g.89328838_89328839del	GRCh38
NC_000015.9:g.89872069_89872070del , CM000677.1:g.89872069_89872070del	GRCh37
NC_000015.8:g.87673073_87673074del	NCBI36
NG_008218.1:g.10957_10958del
NG_008218.2:g.10957_10958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1024-8_1024-7del	ENSP00000516154.1:n.1024-8_1024-7del
ENST00000268124.11:c.1024-8_1024-7del MANE Select	ENSP00000268124.5:n.1024-8_1024-7del
ENST00000530292.3:c.625-8_625-7del	ENSP00000432885.2:n.625-8_625-7del
ENST00000635986.2:c.1024-8_1024-7del	ENSP00000490653.2:n.1024-8_1024-7del
ENST00000636774.1:c.1024-8_1024-7del	ENSP00000489799.1:n.1024-8_1024-7del
ENST00000637264.1:c.96-8_96-7del
ENST00000666746.1:c.681-8_681-7del
ENST00000672071.1:n.1222-8_1222-7del
ENST00000672923.2:n.21-8_21-7del
ENST00000268124.9:c.1024-8_1024-7del	ENSP00000268124.5:n.1024-8_1024-7del
ENST00000442287.6:c.1024-8_1024-7del	ENSP00000399851.2:n.1024-8_1024-7del
ENST00000631044.2:c.*407-8_*407-7del	ENSP00000486730.1:n.*407-8_*407-7del
NM_001126131.1:c.1024-8_1024-7del	NP_001119603.1:n.1024-8_1024-7del
NM_002693.2:c.1024-8_1024-7del	NP_002684.1:n.1024-8_1024-7del
NM_001126131.2:c.1024-8_1024-7del	NP_001119603.1:n.1024-8_1024-7del
NM_002693.3:c.1024-8_1024-7del MANE Select	NP_002684.1:n.1024-8_1024-7del